by Camillo Di Cicco

Created on: May 09, 2008   Last Updated: May 14, 2008

Hereditary disease, trasmitted with recessive autosomical modality, the XP is characterized from extreme photosensivity that causes strict and premature damages to level of the cutis and of the eyes. Its incidence is of 1:250000 in Europe and USA, while in Japan the relationship is of 1:40000.

XERODERMA PIGMENTOSUM

The first descriptions of the disease are found again in the Textbook of Dermatology, published in 1874, "On disease of the skin, including exanthemata" London - New Sydenham Society, Hebra F.-Kaposi M.

The term "Xeroderma Pigmentosum" was coined from the hungarian dermatologist Moritz Kaposi wanting in such a way to indicate a characterized disease picture from pigmented and dry skin.
Hereditary disease, trasmitted with recessive autosomical modality, the XP is characterized from extreme photosensivity that causes strict and premature damages to level of the cutis and of the eyes. Its incidence is of 1:250000 in Europe and USA, while in Japan the relationship is of 1:40000. In the child affected by XP also short exposure to the sun's ultraviolet rays determines severe cutaneous sunburn with slow resolution, therefore it is from avoiding sources of ultraviolet cancellations categorically, considering moreover that the effects of the exposures are cumulative in the time. The cutaneous displays that characterize the disease, which pigmented specks, dry skin, atrophic lesion, keratoses, bubbles, carry to the apparence, also before the ten years of age, skin cancers.These manifestations are due to the defect of the mechanism of DNA repair, often develop on the face and other sun-exposed parts of the body , including the eyes, lips, and tip of the tongue. The three skin cancers (basal cell carcinoma, squamous cell carcinoma and malignant melanoma) are presents in the XP, therefore the importance of continous controls of the patient is comprised because can be proceeded to immediate removal of whichever skin cancers. To level of the eyes, from the initial phases of the disease, in approximately 80% of the patients they are photophobia, conjunctivitis, ectropion, symblepharon with ulceration, blindness, basal cell carcinoma, squamous cell carcinoma and malignant melanoma. To find that the skin it introduces the first alterations after the six months of life, being moreover normal to the birth. Less of 40% of the patients it survives after the twenty years of age, developing they prematurely numerous skin cancers. While the subjects with attenuated shape of

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